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4. Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Author

Semler, Oliver, Cormier-Daire, Valérie, Lausch, Ekkehart, Bober, Michael B., Carroll, Ricki, Sousa, Sérgio B., Deyle, David, Faden, Maha, Hartmann, Gabriele, Huser, Aaron J., Legare, Janet M., Mohnike, Klaus, Rohrer, Tilman R., Rutsch, Frank, Smith, Pamela, Travessa, Andre M., Verardo, Angela, White, Klane K., Wilcox, William R., and Hoover-Fong, Julie

Published
2024
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6. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan RS

Subjects
Clinical Trials and Supportive Activities, Clinical Research, Pediatric, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Decent Work and Economic Growth, Achondroplasia, Child, Double-Blind Method, Humans, Natriuretic Peptide, C-Type, Treatment Outcome, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeAchondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates endochondral bone growth and is in development for the treatment of achondroplasia. This phase 3 extension study was conducted to document the efficacy and safety of continuous, daily vosoritide treatment in children with achondroplasia, and the two-year results are reported.MethodsAfter completing at least six months of a baseline observational growth study, and 52 weeks in a double-blind, placebo-controlled study, participants were eligible to continue treatment in an open-label extension study, where all participants received vosoritide at a dose of 15.0 μg/kg/day.ResultsIn children randomized to vosoritide, annualized growth velocity increased from 4.26 cm/year at baseline to 5.39 cm/year at 52 weeks and 5.52 cm/year at week 104. In children who crossed over from placebo to vosoritide in the extension study, annualized growth velocity increased from 3.81 cm/year at week 52 to 5.43 cm/year at week 104. No new adverse effects of vosoritide were detected.ConclusionVosoritide treatment has safe and persistent growth-promoting effects in children with achondroplasia treated daily for two years.

Published
2021

7. Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial

Author

Savarirayan, Ravi, Hoernschemeyer, Daniel G., Ljungberg, Merete, Zarate, Yuri A., Bacino, Carlos A., Bober, Michael B., Legare, Janet M., Högler, Wolfgang, Quattrin, Teresa, Abuzzahab, M. Jennifer, Hofman, Paul L., White, Klane K., Ma, Nina S., Schnabel, Dirk, Sousa, Sérgio B., Mao, Meng, Smith, Alden, Chakraborty, Mukta, Giwa, Adebola, Winding, Bent, Volck, Birgitte, Shu, Aimee D., and McDonnell, Ciara

Published
2023
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8. Persistent and Stable Growth Promoting Effects of Vosoritide in Children With Achondroplasia for up to 2 Years: Results From the Ongoing Phase 3 Extension Study

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane, Saal, Howard, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania, Jayaram, Kala, Fisheleva, Elena, Han, Lynn, and Day, Jonathan

Abstract

Abstract Objectives: Vosoritide is a potent stimulator of endochondral bone growth and is in development for the treatment of achondroplasia, the most common form of disproportionate short stature. We previously reported on a 52-week, phase 3, pivotal study that demonstrated a highly statistically significant improvement in annualized growth velocity (AGV) when vosoritide was compared to placebo in children with achondroplasia aged 5-18 years (Savarirayan et al, Lancet, 2020). This is an analysis of data after an additional 52 weeks of treatment in the ongoing phase 3 extension study. Methods: After completion of the phase 3 placebo-controlled study, 119 children were enrolled into the extension study, where they all receive open label 15 μg/kg/day vosoritide. AGV, height Z-score and body proportion ratio were analyzed to assess efficacy of vosoritide in children who were treated with vosoritide for up to 2 years. Fifty-eight continued treatment with vosoritide and 61 switched from placebo to vosoritide. Two participants on continuous vosoritide treatment discontinued before the Week 52 timepoint. Four participants on continuous vosoritide treatment and 7 participants who switched from placebo to vosoritide missed the Week 52 assessment due to Covid-19. Results: In children randomized to receive daily vosoritide, baseline mean (SD) AGV was 4.26 (1.53) cm/year. After the first 52 weeks of treatment, mean (SD) AGV was 5.67 (0.98) cm/year. Mean (SD) AGV over the second year was 5.57 (1.10) cm/year. Mean (SD) change from baseline in height Z-score improved by +0.24 (0.31) at Week 52 in the pivotal study and +0.45 (0.56) at Week 52 in the extension study. Mean (SD) upper-to-lower body segment ratio improved with a change from baseline of -0.03 (0.11) at Week 52 in the pivotal study and -0.09 (0.11) at Week 52 in the extension study. In children who switched from placebo to vosoritide after 52 weeks, baseline AGV was 4.06 (1.20) cm/year and 3.94 (1.07) cm/year after 52 weeks on placebo. In the second year, after receiving 52 weeks of vosoritide, mean AGV was 5.65 (1.47) cm/year, the mean (SD) change in height Z-score was +0.24 (0.34), and the change in upper-to-lower body segment ratio was -0.03 (0.08). No new adverse events associated with vosoritide treatment were detected with up to 2 years of continuous daily, subcutaneous treatment. Most adverse events were mild and no serious adverse events were attributed to vosoritide. The most common adverse event remains mild and transient injection site reactions. Conclusions: The effect of vosoritide administration on growth as measured through AGV and height Z-score was maintained for up to 2-years in children with achondroplasia aged 5 to 18 years, with an improvement of body proportions.

Published
2021

9. SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschmeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane, Saal, Howard M, Leiva-Gea, Antonio, Luna-Gonzáles, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan

Abstract

Abstract Background: Achondroplasia is a disorder caused by specific mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) protein. Open-label, phase 2 trials in children with achondroplasia showed that administration of vosoritide, an analogue of C-natriuretic peptide, resulted in sustained increases in annualized growth velocity. Methods: This international, randomized, double-blind, phase 3 trial compared once-daily subcutaneous administration of vosoritide, at a dose of 15 μg per kg of body weight, with placebo in children with achondroplasia aged 5 to

Published
2020

10. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

Author

Savarirayan, Ravi, Irving, Melita, Harmatz, Paul, Delgado, Borja, Wilcox, William R., Philips, John, Owen, Natalie, Bacino, Carlos A., Tofts, Louise, Charrow, Joel, Polgreen, Lynda E., Hoover-Fong, Julie, Arundel, Paul, Ginebreda, Ignacio, Saal, Howard M., Basel, Donald, Font, Rosendo Ullot, Ozono, Keiichi, Bober, Michael B., Cormier-Daire, Valerie, Le Quan Sang, Kim-Hanh, Baujat, Genevieve, Alanay, Yasemin, Rutsch, Frank, Hoernschemeyer, Daniel, Mohnike, Klaus, Mochizuki, Hiroshi, Tajima, Asako, Kotani, Yumiko, Weaver, David D., White, Klane K., Army, Clare, Larrimore, Kevin, Gregg, Keith, Jeha, George, Milligan, Claire, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan

Published
2022
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11. #PediPodsOnline: Social Media Use in Pediatric Orthopaedic Surgery

Author

Nowicki, Philip, Louer, Craig, Jr, Franklin, Corinna, Clement, Carter, Anderson, John W., Beck, Jennifer, Bellaire, Laura, Bennett, David Michael, Cho, Robert Hyun, Koenig, Jonathan Harley, Kuzma, Alexander L., Lauer, Craig, Jr, Lopyan, Alex, Lubicky, John P., Meisel, Erin, Siobhan Murphy-Zane, M., Poon, Selina, Pearce, Stephanie Stopka, Stephens Richards, B., III, Russo, Christen Marie, Sawyer, Jeffrey R., Scherl, Susan A., Schiffern, Alison, Schmitz, Matthew Robert, Skalak, Timothy, Tompkins, Bryan, Weiss, Jennifer M., White, Klane K., and Woiczik, Marcella

Published
2022
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14. Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Author

Savarirayan, Ravi, Baratela, Wagner, Butt, Thomas, Cormier-Daire, Valérie, Irving, Melita, Miller, Bradley S., Mohnike, Klaus, Ozono, Keiichi, Rosenfeld, Ron, Selicorni, Angelo, Thompson, Dominic, White, Klane K., Wright, Michael, and Fredwall, Svein O.

Published
2022
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15. Lengthening Behavior of Magnetically Controlled Growing Rods in Early-Onset Scoliosis: A Multicenter Study

Author

Heyer, Jessica H., Anari, Jason B., Baldwin, Keith D., Mitchell, Stuart L., Luhmann, Scott J., Sturm, Peter F., Flynn, John M., Cahill, Patrick J., Abdulfattah Abdullah, Abdullah Saad, Ahn, Edward, Akbarnia, Behrooz, Akoto, Harry, Albanese, Stephen, Anari, Jason, Anderson, John, Anderson, Richard, Andras, Lindsay, Bauer, Jennifer, Bellaire, Laura, Betz, Randy, Birch, Craig, Blakemore, Laurel, Boachie-Adjei, Oheneba, Bonfield, Chris, Bouton, Daniel, Brassard, Felix, Brockmeyer, Douglas, Brooks, Jaysson, Bumpass, David, Cahill, Pat, Chemaly, Olivier, Cheung, Jason, Cheung, Kenneth, Cho, Robert, Christman, Tyler, Beauchamp, Eduardo Colom, Couture, Daniel, Crawford, Haemish, Crawford, Alvin, Dahl, Benny, Demirkiran, Gokhan, Devito, Dennis, Diab, Mohammad, El Sebaie, Hazem, El-Hawary, Ron, Emans, John, Erickson, Mark, Fabregas, Jorge, Farley, Frances, Farrington, David, Fedorak, Graham, Fitzgerald, Ryan, Fletcher, Nicholas, Floccari, Lorena, Flynn, Jack, Gabos, Peter, Gardner, Adrian, Garg, Sumeet, Gerow, Frank, Glotzbecker, Michael, Gomez, Jaime, Gonda, David, Guillaume, Tenner, Gupta, Purnendu, Halvorson, Kyle, Hammerberg, Kim, Hardesty, Christina, Hedequist, Daniel, Heffernan, Michael, Heflin, John, Helenius, Ilkka, Herrera, Jose, Hogue, Grant, Holt, Josh, Howard, Jason, Hresko, Michael Timothy, Hwang, Steven, Ihnow, Stephanie, Ilharreborde, Brice, Illingworth, Kenneth, Jain, Viral, Jea, Andrew, Johnson, Megan, Johnston, Charles, Jones, Morgan, Karlen, Judson, Karlin, Lawrence, Katz, Danielle, Kawakami, Noriaki, Kelly, Brian, Kelly, Derek, Knapp, Raymond, Koljonen, Paul, Kwan, Kenny, Labelle, Hubert, Lark, Robert, Larson, A. Noelle, Lavelle, William, Lenke, Lawrence, Lew, Sean, Li, Gertrude, Louer, Craig, Luhmann, Scott, Mac-Thiong, Jean-Marc, Mackenzie, Stuart, MacKintosh, Erin, Mangano, Francesco, Marks, David, Marquez, Sanchez, Martin, Jonathan, Martus, Jeffrey, Matamalas, Antonia, Mayer, Oscar, McCarthy, Richard, McIntosh, Amy, McQuerry, Jessica, Mehta, Jwalant, Metz, Lionel, Miller, Daniel, Miyanji, Firoz, Mundis, Greg, Murphy, Josh, Murphy, Robert, Myung, Karen, Nelson, Susan, Newton, Peter, Ede, Matthew Newton, Nguyen, Cynthia, Nunez, Susana, Oetgen, Matthew, Oswald, Timothy, Ouellet, Jean, Pahys, Josh, Palomino, Kathryn, Parent, Stefan, Garcia, Alejandro Peiro, Pellise, Ferran, Perra, Joseph, Phillips, Jonathan, Pizones, Javier, Poon, Selina, Price, Nigel, Ramirez-Lluch, Norman, Ramo, Brandon, Redding, Gregory, Ritzman, Todd, Rodriguez, Luis, Rodriguez-Olaverri, Juan Carlos, Roye, David, Roye, Benjamin, Saiman, Lisa, Samdani, Amer, Perez-Grueso, Francisco Sanchez, Sanders, James, Sawyer, Jeffrey, Sayama, Christina, Schmitz, Michael, Schulz, Jacob, Schwend, Richard, Shah, Suken, Shapiro, Jay, Shufflebarger, Harry, Skaggs, David, Smit, Kevin, Smith, John, Snyder, Brian, Sponseller, Paul, Stephen, George, Stone, Joe, Sturm, Peter, Sukkarieh, Hamdi, Swarup, Ishaan, Szczodry, Michal, Thometz, John, Thompson, George, Tomoko, Tanaka, Truong, Walter, Vialle, Raphael, Vitale, Michael, Vorhies, John, Wall, Eric, Wang, Shengru, Warner, Bill, Weinstein, Stuart, Welborn, Michelle, White, Klane, Wrubel, David, Wu, Nan, Yankey, Kwadwo, Yaszay, Burt, Yazici, Muharrem, and Zhang, Terry Jianguo

Published
2022
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18. Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.

Author

MacCarrick, Gretchen, Aradhya, Swaroop, Bailey, Mitch, Chu, Dorna, Hunt, Abigail, Izzo, Emanuela, Krakow, Deborah, Mackenzie, William, Poll, Sarah, Raggio, Cathleen, Shediac, Renée, White, Klane K., McLaughlin, Heather M., and Seratti, Guillermo

Abstract

Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022). Median (range) age was 8 (0–90) years, 70.5% had short stature and/or disproportionate growth, 27.4% had a positive molecular diagnosis (MDx), and 30 individuals received two MDx. Genes most commonly contributing to MDx were FGFR3 (16.9%), ALPL (13.0%), and COL1A1 (10.3%). Most of the 112 genes associated with ≥1 MDx were primarily involved in signal transduction (n = 35), metabolism (n = 23), or extracellular matrix organization (n = 17). There were implications associated with specific care/treatment options for 84.4% (1158/1372) of MDx‐positive individuals; >50% were linked to conditions with targeted therapy approved or in clinical development, including osteogenesis imperfecta, achondroplasia, hypophosphatasia, and mucopolysaccharidosis. Forty individuals with initially inconclusive results became MDx‐positive following family testing. Follow‐up mucopolysaccharidosis enzyme activity testing was positive in 14 individuals (10 of these were not MDx‐positive). Our findings showed that inclusion of metabolic genes associated with SD increased the clinical utility of a gene panel and confirmed that integrated use of comprehensive gene panel testing with orthogonal testing reduced the burden of inconclusive results. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Ullot Font, Rosendo, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan

Published
2020
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20. The Physis: Fundamental Knowledge to a Fantastic Future Through Research: Proceedings of the AAOS/ORS Symposium

Author

Halanski, Matthew A., Wallace, Maegen J., Schipani, Ernestina, Kronenberg, Henry, Serra, Rosa, Nilsson, Ola, White, Klane, Bober, Michael, Alman, Benjamin, Hoernschemeyer, Daniel, De Luca, Francesco, Wit, Jan-Maarten, Noonan, Ken, Paloian, Neil, Deyle, David, Gilbert, Shawn, Sabharwal, Sanjeev, Stevens, Peter, Schoenecker, Jonathan, Larson, Noelle, Milbrandt, Todd, and Li, Wan-Ju

Published
2020
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22. Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Author

Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, and Sly, William S

Subjects
Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data.MethodsWe have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease.ResultsWe collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS.ConclusionsMPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.

Published
2016

27. Orthopedic management of the extremities in patients with Morquio A syndrome

Author

White, Klane K, Jester, Andrea, Bache, C Edward, Harmatz, Paul R, Shediac, Renée, Thacker, Mihir M, and Mackenzie, William G

Subjects
Clinical Research, Rare Diseases, Morquio A, Mucopolysaccharidosis IVA, MPS IVA, Lower extremity, Upper extremity, Paediatrics and Reproductive Medicine, Orthopedics
Abstract

BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature, there have been few reported studies to date to guide the management of the orthopedic problems associated with the lower and upper extremities.PurposeThe objective was to develop recommendations for the management of the extremities in patients with Morquio A syndrome.MethodsA group of specialists in orthopedics, pediatrics and genetics with experience in the management of Morquio A patients convened to review and discuss current clinical practices and to develop preliminary recommendations. Evidence from the literature was retrieved. Recommendations were further refined until consensus was reached.Results and conclusionsThis present article provides a detailed review and discussion of the lower and upper extremity deformities in Morquio A syndrome and presents recommendations for the assessment and treatment of these complications. Key issues, including the importance of early diagnosis and the implications of medical therapy, are also addressed. The recommendations herein represent an attempt to develop a uniform and practical approach to managing patients with Morquio A syndrome and improving their outcomes.

Published
2014

30. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

Author

Langereis, Eveline J, Borgo, Andrea, Crushell, Ellen, Harmatz, Paul R, van Hasselt, Peter M, Jones, Simon A, Kelly, Paula M, Lampe, Christina, van der Lee, Johanna H, Odent, Thierry, Sakkers, Ralph, Scarpa, Maurizio, Schafroth, Matthias U, Struijs, Peter A, Valayannopoulos, Vassili, White, Klane K, and Wijburg, Frits A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Mucopolysaccharidoses (MPS), Clinical Research, Regenerative Medicine, Rare Diseases, Digestive Diseases, Stem Cell Research, Transplantation, Musculoskeletal, Hematopoietic Stem Cell Transplantation, Hip Dislocation, Humans, Mucopolysaccharidosis I, Mucopolysaccharidosis type I, Hurler syndrome, Hematopoietic stem cell transplantation, Dysostosis multiplex, Hip dysplasia, Surgical treatment, Consensus, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BackgroundMucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal disease, including hip dysplasia, is almost invariably present in MPS I-H, and appears to be particularly unresponsive to HSCT. Hip dysplasia may lead to pain and loss of ambulation, at least in a subset of patients, if left untreated. However, there is a lack of evidence to guide the development of clinical guidelines for the follow-up and treatment of hip dysplasia in patients with MPS I-H. Therefore, an international Delphi consensus procedure was initiated to construct consensus-based clinical practice guidelines in the absence of available evidence.MethodsA literature review was conducted, and publications were graded according to their level of evidence. For the development of consensus guidelines, eight metabolic pediatricians and nine orthopedic surgeons with experience in the care of MPS I patients were invited to participate. Eleven case histories were assessed in two written rounds. For each case, the experts were asked if they would perform surgery, and they were asked to provide information on the aspects deemed essential or complicating in the decision-making process. In a subsequent face-to-face meeting, the results were presented and discussed. Draft consensus statements were discussed and adjusted until consensus was reached.ResultsConsensus was reached on seven statements. The panel concluded that early corrective surgery for MPS I-H patients with hip dysplasia should be considered. However, there was no full consensus as to whether such a procedure should be offered to all patients with hip dysplasia to prevent complications or whether a more conservative approach with surgical intervention only in those patients who develop clinically relevant symptoms due to the hip dysplasia is warranted.ConclusionsThis international consensus procedure led to the construction of clinical practice guidelines for hip dysplasia in transplanted MPS I-H patients. Early corrective surgery should be considered, but further research is needed to establish its efficacy and role in the treatment of hip dysplasia as seen in MPS I.

Published
2013

31. Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management

Author

Solanki, Guirish A, Martin, Kenneth W, Theroux, Mary C, Lampe, Christina, White, Klane K, Shediac, Renée, Lampe, Christian G, Beck, Michael, Mackenzie, William G, Hendriksz, Christian J, and Harmatz, Paul R

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Neurosciences, Prevention, Biomedical Imaging, Brain Disorders, Mucopolysaccharidoses (MPS), Rare Diseases, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Constriction, Pathologic, Humans, Mucopolysaccharidosis IV, Spinal Cord Compression, Spine, Genetics & Heredity, Genetics, Clinical sciences
Abstract

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.

Published
2013

32. THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Trial

Author

Savarirayan, Ravi, primary, McDonnell, Ciara, additional, Hoernschemeyer, Daniel G, additional, Hove, Hanne B, additional, Zarate, Yuri A, additional, Bober, Michael B, additional, Bacino, Carlos A, additional, Legare, Janet M, additional, Högler, Wolfgang, additional, Quattrin, Teresa, additional, Abuzzahab, M Jennifer, additional, Hofman, Paul L, additional, White, Klane K, additional, Ma, Nina, additional, Schnabel, Dirk, additional, Sousa, Sérgio B, additional, Fan, Xiaolin, additional, Chakraborty, Mukta, additional, Giwa, Adebola, additional, Smith, Sharon E, additional, Volck, Birgitte, additional, and Shu, Aimee D, additional

Published
2023
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36. P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Carroll, Ricki, Polgreen, Lynda, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Prada, Carlos, Hoernschemeyer, Daniel, Ozono, Keiichi, Kubota, Takuo, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane, Brandstetter, Shelley, Saal, Howard, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Tajima, Asako, Basel, Donald, Fisheleva, Elena, Rowell, Richard, Labed, Alice Huntsman, and Day, Jonathan

Published
2024
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37. P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Carroll, Ricki, Polgreen, Lynda, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Prada, Carlos, Hoernschemeyer, Daniel, Ozono, Keiichi, Kubota, Takuo, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane, Brandstetter, Shelley, Saal, Howard, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Tajima, Asako, Basel, Donald, Fisheleva, Elena, Low, Andrea, Lawrinson, Sue, and Day, Jonathan

Published
2024
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41. Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

Author

Kuiper, Gé-Ann, Langereis, Eveline J., Breyer, Sandra, Carbone, Marco, Castelein, René M., Eastwood, Deborah M., Garin, Christophe, Guffon, Nathalie, van Hasselt, Peter M., Hensman, Pauline, Jones, Simon A., Kenis, Vladimir, Kruyt, Moyo, van der Lee, Johanna H., Mackenzie, William G., Orchard, Paul J., Oxborrow, Neil, Parini, Rossella, Robinson, Amy, Schubert Hjalmarsson, Elke, White, Klane K., and Wijburg, Frits A.

Published
2019
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43. Colaboradores

Author

Abman, Steven H., Ali, Noorjahan, Allegaert, Karel, Anderson, Jamie E., Ansah, Deidra A., Arya, Bhawna, Askenazi, David, Aucott, Susan W., Back, Stephen A., Baer, Gerri R., Baldwin, H. Scott, Ballas, Jerasimos, Batra, Maneesh, Bayart, Cheryl, Bellus, Gary A., Benjamin, John T., Berry, Gerard T., Billimoria, Zeenia C., Binenbaum, Gil, Blessing, Matthew S., Boos, Markus D., Bosse, Brad, Bouchard, Maryse L., Brandling-Bennett, Heather A., Brown, Colleen, Brown, Erin G., Campbell, Katherine H., Carlberg, Katie, Carter, Brian S., Chabra, Shilpi, Chang, Irene J., Cheng, Edith Y., Chiang, Kai-wen, Christensen, Robert D., Chun, Terrence, Clyman, Ronald I., Cortezzo, DonnaMaria E., Cotten, C.M., Courtney, Sherry E., Davis, Jonathan M., Campomanes, Alejandra G. de Alba, Dean, Benjamin, Dees, Ellen, DeMauro, Sara B., Denne, Scott C., Deschmann, Emöke, Blasi, Carolina Cecilia Di, DiVall, Sara A., Doherty, Dan, Durand, David J., Dyess, Nicolle Fernández, Eichenwald, Eric C., Eitel, Kelsey B., Engen, Rachel M., Evans, Kelly N., Farmer, Diana L., Fay, Emily, Fechner, Patricia Y., Fleishman, Rachel, Fleiss, Bobbi, Flynn, Joseph, Jr., Flynn-O’Brien, Katherine T., Fulton, G. Kyle, Gallagher, Renata C., Gauda, Estelle B., Golden, W. Christopher, Gontasz, Michelle M., Estévez, Natasha González, Gospe, Sidney M., Jr., Gressens, Pierre, Gupta, Deepti, Hingorani, Sangeeta, Hinson, Ashley P., Hintz, Susan R., Hodson, W. Alan, Hoppe, Kara K., Huang, Alyssa, Huang, Benjamin, Huen, Kathy, Huff, Katie A., Ionita, Cristian, Jackson, J. Craig, Jackson, Jordan E., Jaksic, Tom, Javid, Patrick J., Johnson, Julia, Josephson, Cassandra D., Jungheim, Emily S., Juul, Sandra E., Kabbany, Mohammad Nasser, Karpen, Heidi, Keefe, Gregory, Keene, Jennifer C., Keiser, Amaris M., Keller, Roberta L., Kelly, Thomas F., Khorsand, Kate, Kim, Grace, Kinsella, John P., Komorowski, Allison S., Koves, Ildiko H., Lagatta, Joanne M., Lakshminrusimha, Satyan, Lam, Christina, Lantos, John D., Law, Janessa B., Lee, Su Yeon, Levy, Ofer, Lewis, David B., Lin, Philana Ling, Lorch, Scott A., Lucas, Tiffany L., Maheshwari, Akhil, Maltepe, Emin, Mandell, Erica, Manimtim, Winston M., Martin, Richard J., Mayock, Dennis E., McAleer, Irene, McQuillen, Patrick, Melvin, Ann J., Merguerian, Paul A., Merjaneh, Lina, Merritt, J. Lawrence, II, Mezger, Valerie, Michaels, Marian G., Mietzsch, Ulrike, Miller, Steven P., Moore, Thomas R., Murray, Karen F., Nandi-Munshi, Debika, Natarajan, Niranjana, Ness, Kathryn D., Neu, Josef, Noori, Shahab, ’Shea, Thomas Michael O, Jr., Oatts, Julius T., Paneth, Nigel, Parker, Thomas A., Patel, Ravi Mangal, Patel, Simran, Penn, Anna A., Pettker, Christian M., Peyvandi, Shabnam, Pihoker, Catherine, Plosa, Erin, Poindexter, Brenda, Posencheg, Michael A., Puia-Dumitrescu, Mihai, Cardona, Vilmaris Quiñones, Rice-Townsend, Samuel E., Riddle, Art, Robbins, Elizabeth, Rollins, Mark D., Rosen, Mark A., Rowe, Courtney K., Sahai, Inderneel, Saitta, Sulagna C., Salehi, Parisa, Sánchez, Pablo J., Sawyer, Taylor, Saxonhouse, Matthew A., Schroeder, Katherine M., Selewski, David T., Senaratne, T. Niroshi, Seri, Istvan, Sharpe, Emily E., Sheppard, Sarah E., Shnorhavorian, Margarett, Sidbury, Robert, Simmons, LaVone, Simmons, Rebecca A., Singh, Rachana, Sola-Visner, Martha C., Srinivasan, Lakshmi, Steflik, Heidi J., Steinhorn, Robin H., Stokes, Caleb, Stolp, Helen, Sucre, Jennifer, Sun, Angela, Taha, Dalal K., Tenney, Jessica, Thomas, Janet A., Tiller, George E., Torres, Benjamin A., Truog, William E., Upadhyay, Kirtikumar, Valentine, Gregory C., van den Anker, John N., Vohr, Betty, Wallen, Linda D., Wang, Peter (Zhan Tao), Warady, Bradley A., Ward, Robert M., Watchko, Jon F., Wehbi, Elias, Weitkamp, Joern-Hendrik, Werny, David, White, Klane K., Wild, K. Taylor, Wiley, Susan, Willig, Laurel, Woodward, George A., Wright, Clyde J., Yonekawa, Karyn, Yu, Elizabeth, and Zackai, Elaine H.

Published
2025
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46. P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice

Author

Semler, Oliver, primary, Cormier-Daire, Valérie, additional, Lausch, Ekkehart, additional, Bober, Michael, additional, Carroll, Ricki, additional, Sousa, Sérgio, additional, Deyle, David, additional, Faden, Maha, additional, Hartmann, Gabriele, additional, Huser, Aaron, additional, Legare, Janet, additional, Mohnike, Klaus, additional, Rohrer, Tilman, additional, Rutsch, Frank, additional, Smith, Pamela, additional, Travessa, Andre, additional, Verado, Angela, additional, White, Klane, additional, Wilcox, William, additional, and Hoover-Fong, Julie, additional

Published
2023
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47. P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study*

Author

Hoover-Fong, Julie, primary, Savarirayan, Ravi, additional, Tofts, Louise, additional, Irving, Melita, additional, Wilcox, William, additional, Bacino, Carlos, additional, Font, Rosendo Ullot, additional, Harmatz, Paul, additional, Rutsch, Frank, additional, Bober, Michael, additional, Polgreen, Lynda, additional, Ginebreda, Ignacio, additional, Mohnike, Klaus, additional, Charrow, Joel, additional, Hoernschemeyer, Daniel, additional, Ozono, Keiichi, additional, Alanay, Yasemin, additional, Arundel, Paul, additional, Kagami, Shoji, additional, Yasui, Natsuo, additional, White, Klane, additional, Saal, Howard, additional, Leiva-Gea, Antonio, additional, Luna-González, Felipe, additional, Mochizuki, Hiroshi, additional, Basel, Donald, additional, Porco, Dania, additional, Jayaram, Kala, additional, Fisheleva, Elena, additional, Lawrinson, Sue, additional, and Day, Jonathan, additional

Published
2023
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48. Contributors

Author

Abman, Steven H., primary, Allegaert, Karel, additional, Arya, Bhawna, additional, Askenazi, David, additional, Azhibekov, Timur, additional, Back, Stephen A., additional, Baldwin, H. Scott, additional, Ballard, Roberta A., additional, Bancalari, Eduardo, additional, Bates, Carlton M., additional, Batra, Maneesh, additional, Bayart, Cheryl B., additional, Bellus, Gary A., additional, Benedetti, Thomas J., additional, Benjamin, John T., additional, Bennett, James T., additional, Berry, Gerard T., additional, Binenbaum, Gil, additional, Boos, Markus D., additional, Bouchard, Maryse, additional, Brandling-Bennett, Heather A., additional, Broughton, Darcy E., additional, Brown, Zane, additional, Campbell, Katherine H., additional, Carmichael, Suzan L., additional, Carter, Brian S., additional, Cederbaum, Stephen, additional, Chabra, Shilpi, additional, Chang, Justine, additional, Cheng, Edith Y., additional, Chisholm, Karen M., additional, Christensen, Robert D., additional, Chun, Terrence, additional, Claure, Nelson, additional, Clyman, Ronald I., additional, Colaizy, Tarah T., additional, Cortezzo, DonnaMaria E., additional, Cotten, C. Michael, additional, Cunningham, Michael L., additional, de Alba Campomanes, Alejandra G., additional, Dees, Ellen, additional, DeMauro, Sara B., additional, Denne, Scott C., additional, Deschmann, Emöke, additional, Cecilia, Carolina, additional, DiBlasi, Robert M., additional, Dimmitt, Reed A., additional, DiVall, Sara A., additional, Djahangirian, Orchid, additional, Doherty, Dan, additional, Eichenwald, Eric C., additional, Engen, Rachel, additional, Engmann, Cyril, additional, Evans, Jacquelyn R., additional, Evans, Kelly N., additional, Farmer, Diana L., additional, Fechner, Patricia Y., additional, Ferrieri, Patricia, additional, Finer, Neil N., additional, Fleishman, Rachel A., additional, Fleiss, Bobbi, additional, Flynn, Joseph T., additional, Flynn-O'Brien, Katherine T., additional, Frey, Mark R., additional, Furman, Lydia, additional, Gallagher, Renata C., additional, Gauda, Estelle B., additional, Gleason, Christine A., additional, Goldberg, Michael J., additional, Goldin, Adam B., additional, Gospe, Sidney M., additional, Gressens, Pierre, additional, Gupta, Deepti, additional, Guttentag, Susan H., additional, Haldeman-Englert, Chad R., additional, Hansen, Thomas N., additional, Hing, Anne V., additional, Hingorani, Sangeeta, additional, Hintz, Susan R., additional, Hirose, Shinjiro, additional, Hodson, W. Alan, additional, Hoppe, Kara K., additional, Hostetter, Margaret K., additional, Huang, Benjamin, additional, Huang, Sarah Bauer, additional, Inder, Terrie E., additional, Inoita, Cristian, additional, Jackson, J. Craig, additional, Jain, Deepak, additional, Jain, Lucky, additional, Javid, Patrick J., additional, Josephson, Cassandra D., additional, Jungheim, Emily S., additional, Juul, Sandra E., additional, Katheria, Anup, additional, Keller, Benjamin A., additional, Keller, Roberta L., additional, Kelly, Thomas F., additional, Khorsand, Kate, additional, Kim, Grace, additional, Kinsella, John P., additional, Koves, Ildiko H., additional, Lam, Christina, additional, Lane, Erin R., additional, Lantos, John D., additional, Ledbetter, Daniel J., additional, Lee, Ben, additional, Levy, Harvey L., additional, Levy, Ofer, additional, Lewin, Mark B., additional, Lewis, David B., additional, Lin, P. Ling, additional, Lin, Tiffany Fangtse, additional, Lorch, Scott A., additional, Maheshwari, Akhil, additional, Maltepe, Emin, additional, Marsh, Ketzela J., additional, Martin, Richard J., additional, Mayock, Dennis E., additional, McAdams, Ryan Michael, additional, McAleer, Irene, additional, McElroy, Steven J., additional, McNelis, Kera M., additional, McQuillen, Patrick, additional, Meadow, William L., additional, Merguerian, Paul A., additional, Merjaneh, Lina, additional, Merritt, J. Lawrence, additional, Mezger, Valerie, additional, Michaels, Marian G., additional, Miller, Steven P., additional, Mohan, Sowmya S., additional, Mollen, Thomas J., additional, Moore, Thomas R., additional, Murray, Jeffrey C., additional, Murray, Karen F., additional, Nandi-Munshi, Debika, additional, Natarajan, Niranjana, additional, Neil, Jeffrey J., additional, Ness, Kathryn D., additional, Neu, Josef, additional, Siu-Ying, Angel, additional, Noori, Shahab, additional, O'Mahony, Lila, additional, Palma, Jonathan P., additional, Paneth, Nigel, additional, Parker, Thomas A., additional, Patel, Ravi Mangal, additional, Penn, Anna A., additional, Pettker, Christian M., additional, Peyvandi, Shabnam, additional, Pihoker, Cate, additional, Plosa, Erin, additional, Poindexter, Brenda B., additional, Posencheg, Michael A., additional, Reinking, Benjamin E., additional, Rice-Townsend, Samuel, additional, Richards, Morgan K., additional, Richardson, C. Peter, additional, Richardson, Kelsey, additional, Riggle, Kevin M., additional, Robbins, Elizabeth, additional, Rollins, Mark D., additional, Rosen, Mark A., additional, Rowe, Courtney K., additional, Sahai, Inderneel, additional, Saitta, Sulagna C., additional, Salehi, Parisa, additional, Sanchez, Pablo, additional, Saxonhouse, Matthew A., additional, Schanler, Richard J., additional, Schleiss, Mark R., additional, Scholz, Thomas, additional, Schwaderer, Andrew L., additional, Selewski, David, additional, Sellers, Zachary M., additional, Seri, Istvan, additional, Shnorhavorian, Margarett, additional, Sibley, Eric, additional, Sidbury, Robert, additional, Simmons, Rebecca, additional, Smith, Caitlin, additional, Sola-Visner, Martha C., additional, Srinivasan, Lakshmi, additional, Steinhorn, Robin H., additional, Stevenson, David K., additional, Stolp, Helen, additional, Taplin, Craig, additional, Tarczy-Hornoch, Peter, additional, Taylor, James A., additional, Thomas, Janet A., additional, Thompson, Tracy, additional, Tiller, George E., additional, Torres, Benjamin A., additional, Traudt, Christopher Michael, additional, van den Anker, John N., additional, Vernon, Margaret M., additional, Vohr, Betty, additional, Walker, Valencia P., additional, Wallen, Linda D., additional, Wallenstein, Matthew B., additional, Wang, Peter (Zhan Tao), additional, Warady, Bradley A., additional, Ward, Robert M., additional, Watchko, Jon F., additional, Wehbi, Elias, additional, Weitkamp, Joern-Hendrik, additional, Werny, David, additional, White, Klane K., additional, Willig, Laurel, additional, Woodrum, David, additional, Woodward, George A., additional, Wright, Clyde J., additional, Wright, Jeffrey A., additional, Yonekawa, Karyn, additional, and Zackai, Elaine H., additional

Published
2018
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